The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for GYS1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = GYS1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of GYS1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr19:48,645,454–48,647,163 | 346.7 kb | Distal (>10kb) Multiome HiCAR | 750 | |
| chr19:48,695,830–48,697,033 | 297.2 kb | Distal (>10kb) Multiome | 253 | |
| chr19:48,713,646–48,714,846 | 279.0 kb | Distal (>10kb) Multiome | 719 | |
| chr19:48,716,551–48,717,038 | 276.4 kb | Distal (>10kb) Multiome | 241 | |
| chr19:48,720,420–48,721,301 | 272.4 kb | Distal (>10kb) Multiome | 689 | |
| chr19:48,735,001–48,735,602 | 258.1 kb | Distal (>10kb) Multiome | 161 | |
| chr19:48,738,441–48,739,812 | 254.4 kb | Distal (>10kb) Multiome | 743 | |
| chr19:48,741,194–48,741,939 | 251.8 kb | Distal (>10kb) Multiome | 350 | |
| chr19:48,746,830–48,747,395 | 246.2 kb | Distal (>10kb) Multiome | 402 | |
| chr19:48,752,314–48,753,547 | 240.4 kb | Distal (>10kb) Multiome | 545 | |
| chr19:48,795,165–48,795,736 | 197.8 kb | Distal (>10kb) Multiome | 724 | |
| chr19:48,806,734–48,807,478 | 186.4 kb | Distal (>10kb) Multiome | 452 | |
| chr19:48,810,774–48,811,494 | 182.3 kb | Distal (>10kb) Multiome | 662 | |
| chr19:48,812,048–48,813,099 | 180.8 kb | Distal (>10kb) Multiome | 603 | |
| chr19:48,829,998–48,830,690 | 163.0 kb | Distal (>10kb) Multiome | 55 | |
| chr19:48,835,571–48,838,073 | 157.5 kb | Distal (>10kb) Multiome | 621 | |
| chr19:48,872,000–48,873,835 | 120.9 kb | Distal (>10kb) Multiome | 987 | |
| chr19:48,895,958–48,896,628 | 97.0 kb | Distal (>10kb) Multiome | 207 | |
| chr19:48,899,782–48,900,620 | 93.1 kb | Distal (>10kb) Multiome | 710 | |
| chr19:48,933,397–48,933,948 | 59.7 kb | Distal (>10kb) Multiome | 458 | |
| chr19:48,954,440–48,955,356 | 38.5 kb | Distal (>10kb) Multiome | 905 | |
| chr19:48,963,322–48,964,187 | 29.5 kb | Distal (>10kb) Multiome | 866 | |
| chr19:48,964,515–48,966,446 | 28.1 kb | Distal (>10kb) Multiome | 1015 | |
| chr19:48,992,286–48,992,511 | 798 bp | At TSS | 107 | |
| chr19:48,992,571–48,994,129 | 240 bp | At TSS Multiome | 852 | |
| chr19:48,999,848–49,000,018 | 6.5 kb | Proximal (<10kb) | 161 | |
| chr19:49,017,642–49,018,292 | 24.6 kb | Distal (>10kb) Multiome | 480 | |
| chr19:49,019,277–49,019,889 | 26.3 kb | Distal (>10kb) Multiome | 233 | |
| chr19:49,055,975–49,056,714 | 62.9 kb | Distal (>10kb) Multiome | 431 | |
| chr19:49,064,668–49,065,682 | 71.8 kb | Distal (>10kb) Multiome | 226 | |
| chr19:49,071,761–49,072,903 | 78.7 kb | Distal (>10kb) Multiome | 278 | |
| chr19:49,084,646–49,086,115 | 92.0 kb | Distal (>10kb) Multiome | 1030 | |
| chr19:49,113,727–49,115,240 | 121.7 kb | Distal (>10kb) Multiome | 746 | |
| chr19:49,118,477–49,120,300 | 125.8 kb | Distal (>10kb) Multiome | 949 | |
| chr19:49,127,647–49,128,949 | 134.9 kb | Distal (>10kb) Multiome | 1000 | |
| chr19:49,129,106–49,129,678 | 136.3 kb | Distal (>10kb) Multiome | 197 | |
| chr19:49,132,975–49,134,197 | 140.2 kb | Distal (>10kb) Multiome | 179 | |
| chr19:49,142,781–49,143,252 | 149.8 kb | Distal (>10kb) Multiome | 299 | |
| chr19:49,145,727–49,146,720 | 152.9 kb | Distal (>10kb) Multiome | 511 | |
| chr19:49,148,659–49,150,947 | 157.3 kb | Distal (>10kb) Multiome | 917 | |
| chr19:49,151,539–49,152,548 | 158.7 kb | Distal (>10kb) Multiome | 497 | |
| chr19:49,157,555–49,158,336 | 164.5 kb | Distal (>10kb) Multiome | 599 | |
| chr19:49,210,032–49,211,225 | 217.2 kb | Distal (>10kb) Multiome | 366 |
Genomic view of the GYS1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.